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1.

Glycogen storage disease, type IV

The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The fatal perinatal neuromuscular subtype presents in utero with fetal akinesia deformation sequence (FADS) with decreased fetal movements, polyhydramnios, and fetal hydrops. Death usually occurs in the neonatal period. The congenital neuromuscular subtype presents in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy. Death usually occurs in early infancy. Infants with the classic (progressive) hepatic subtype may appear normal at birth, but rapidly develop failure to thrive; hepatomegaly, liver dysfunction, and progressive liver cirrhosis; hypotonia; and cardiomyopathy. Without liver transplantation, death from liver failure usually occurs by age five years. Children with the non-progressive hepatic subtype tend to present with hepatomegaly, liver dysfunction, myopathy, and hypotonia; however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade. [from GTR]

MedGen UID:
6642
Concept ID:
C0017923
Disease or Syndrome
2.

Glycogen storage disease

A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. [from MeSH]

MedGen UID:
6639
Concept ID:
C0017919
Disease or Syndrome
3.

Glycogen storage disease due to glycogen branching enzyme deficiency

Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms). [from ORDO]

MedGen UID:
799008
Concept ID:
CN204783
Disease or Syndrome
4.

Storage disease

MedGen UID:
541100
Concept ID:
C0267971
Disease or Syndrome
5.

Cirrhosis

MedGen UID:
351476
Concept ID:
C1623038
Disease or Syndrome
6.

Atrophy

Any weakening or degeneration, especially through lack of use. [from NCI]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
7.

enzyme activity

Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. [ISBN:0198506732] [from GO]

MedGen UID:
66218
Concept ID:
C0243102
Molecular Function
8.

Muscle atrophy

Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. [from MeSH]

MedGen UID:
7754
Concept ID:
C0026846
Pathologic Function
9.

Liver Cirrhosis

A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. [from HPO]

MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
10.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
11.

Skeletal muscle atrophy

The presence of skeletal muscular atrophy (which is also known as amyotrophy). [from HPO]

MedGen UID:
902598
Concept ID:
C0234958
Disease or Syndrome
12.

Accumulation

A state characterized by the gradual increase in entities or substances. [from NCI]

MedGen UID:
883922
Concept ID:
C4055506
Finding
13.

Late onset

A type of adult onset with onset of symptoms after the age of 60 years. [from HPO]

MedGen UID:
871123
Concept ID:
C4025592
Temporal Concept
14.

Autosomal Recessive Disorder

An inherited disorder manifested only when two copies of a mutated gene are present. [from NCI]

MedGen UID:
859582
Concept ID:
C3899988
Disease or Syndrome
15.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
16.

Periodic

Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval, i.e., the symptom-free periods are always of the same length. [from HPO]

MedGen UID:
568177
Concept ID:
C0332182
Temporal Concept
17.

Spinal muscular atrophy

Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [from HPO]

MedGen UID:
506049
Concept ID:
CN006358
Finding
18.

Cirrhosis

A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. [from HPO]

MedGen UID:
504826
Concept ID:
CN001275
Finding
19.

Polyglucosan body disease, adult

Adult polyglucosan body disease (APBD) is characterized by adult-onset progressive neurogenic bladder, gait difficulties (i.e., spasticity and weakness) from mixed upper and lower motor neuron involvement, sensory loss predominantly in the distal lower extremities, and mild cognitive difficulties (often executive dysfunction). [from GTR]

MedGen UID:
342338
Concept ID:
C1849722
Disease or Syndrome
20.

Rapidly progressive

MedGen UID:
325078
Concept ID:
C1838681
Finding
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